Allele Registry

Canonical Allele Identifier: PA1139722712

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000174566

ClinVar Variation:

95454

HGVS (amino-acid)	Matching Registered Transcripts
NP_009102.4:p.Glu427Val	CA222991 NM_007171.4:c.1280_1281delinsTC CA375309910 NM_007171.4:c.1280A>T